The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.

Rodríguez, L; Zollino, M; Mansilla, E; Martínez-Fernández, M L; Pérez, P; Murdolo, M; Martínez-Frías, M L

Rodríguez, L; Zollino, M; Mansilla, E; Martínez-Fernández, M L; Pérez, P; Murdolo, M; Martínez-Frías, M L.

Afiliación

Rodríguez L; Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. laura@isciii.es

Am J Med Genet A ; 143A(9): 995-8, 2007 May 01.

Article en En | MEDLINE | ID: mdl-17431893

RESUMEN

We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high-resolution G-band karyotype (550-850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs.

Asunto(s)

Aborto Eugénico; Cromosomas Humanos Par 4; Duplicación de Gen; Bandeo Cromosómico; Femenino; Heterocigoto; Humanos; Masculino; Linaje; Polimorfismo Genético; Embarazo

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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Cromosomas Humanos Par 4 / Aborto Eugénico / Duplicación de Gen Límite: Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2007 Tipo del documento: Article País de afiliación: España Pais de publicación: Estados Unidos

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